A brief report on a case of Cerebrotendinous Xanthomatosis

Abstract

Cerebrotendinous Xanthomatosis is an uncommon autosomal recessive condition caused by a deficient enzyme in the bile acid synthesis pathway. This deficiency leads to the accumulation of cholestanol and cholesterol in various tissues, resulting in neurological, ocular, vascular, and musculoskeletal symptoms. I will be discussing the clinical, imaging, and genetic sequence characteristics of a 33-year-old female who exhibited symptoms such as gait instability, swelling on the posterior aspect of both ankles and medial malleolus, swaying while walking, speech disturbances, and coordination issues in both upper and lower limbs for the past six months. Imaging examinations were conducted, unveiling a range of observations consistent with Cerebrotendinous Xanthomatosis in both the brain and tendons. The diagnosis was subsequently verified through laboratory analyses and genetic sequencing.